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MCID: KPS002
MIFTS: 46

Kaposiform Hemangioendothelioma

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Kaposiform Hemangioendothelioma

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MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 54 60 6 74
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 54
Kaposiform Hemangio-Endothelioma 54
Khe 54
Kh 54

Characteristics:

Orphanet epidemiological data:

60
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 46 C537007
ICD10 via Orphanet 35 D18.0
UMLS via Orphanet 75 C1367420
Orphanet 60 ORPHA2122
UMLS 74 C1367420
Sources

Summaries for Kaposiform Hemangioendothelioma

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NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2122Disease definitionKaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.Visit the Orphanet disease page for more resources.

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioendothelioma and capillary hemangioma. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Sirolimus and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and spleen, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and cardiovascular system

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Related Diseases for Kaposiform Hemangioendothelioma

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Diseases related to Kaposiform Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 31.3 FLI1 FLT4 KDR PECAM1
2 capillary hemangioma 30.6 KDR PECAM1
3 lymphatic malformations 30.6 FLT4 PROX1
4 lymphangioma 30.2 FLT4 KDR PROX1
5 hemangioma 29.8 CD34 FLT4 KDR PECAM1 PROX1
6 angioma, tufted 11.8
7 hemangioma-thrombocytopenia syndrome 11.8
8 lymphangiomatosis 10.4
9 fragile x syndrome 10.3
10 lymphedema 10.3
11 sarcoma 10.3
12 skin hemangioma 10.2 KDR PROX1
13 hennekam syndrome 10.2 FLT4 PROX1
14 hobnail hemangioma 10.1 CD34 FLT4
15 hemangioma, capillary infantile 10.1 FLT4 KDR
16 intussusception 10.1
17 kaposi sarcoma 10.1
18 laryngomalacia 10.1
19 neurofibromatosis, type i 10.1
20 neurofibromatosis, type iv, of riccardi 10.1
21 rheumatoid arthritis 10.1
22 ascites, chylous 10.1
23 lymphatic malformation 7 10.1
24 arthritis 10.1
25 spinal muscular atrophy 10.1
26 hereditary lymphedema 10.1
27 scoliosis 10.1
28 hemopericardium 10.1
29 pericardial effusion 10.1
30 duodenal obstruction 10.1
31 pneumonia 10.1
32 intestinal obstruction 10.1
33 aplasia cutis congenita 10.1
34 fetal edema 10.1
35 hydrops fetalis 10.1
36 proximal spinal muscular atrophy 10.1
37 pyogenic granuloma 10.1
38 soft tissue sarcoma 10.1
39 lichen planus 10.1
40 pulmonary vein stenosis 10.1 KDR PECAM1
41 hydrocele 10.1 FLT4 PECAM1
42 senile angioma 10.1 CD34 KDR
43 radiation proctitis 10.0 KDR PECAM1
44 erythema elevatum diutinum 10.0 CD34 PECAM1
45 ewing's family of tumors 10.0 FLI1 MTOR
46 interstitial emphysema 10.0 CD34 FLT4 PROX1
47 alveoli adenoma 10.0 CD34 FLT4 PROX1
48 pallister-hall syndrome 9.9
49 small cell cancer of the lung 9.9
50 lung cancer 9.9

Graphical network of the top 20 diseases related to Kaposiform Hemangioendothelioma:



Diseases related to Kaposiform Hemangioendothelioma
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Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

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GenomeRNAi Phenotypes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.8 FLT4 KDR MTOR

MGI Mouse Phenotypes related to Kaposiform Hemangioendothelioma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 FLI1 FLT4 KDR MTOR PECAM1 PROX1
2 cellular MP:0005384 9.91 CD34 FLI1 KDR MTOR PECAM1 PROX1
3 hematopoietic system MP:0005397 9.87 CD34 FLI1 KDR MTOR PECAM1 PROX1
4 homeostasis/metabolism MP:0005376 9.8 CD34 FLT4 KDR MTOR PECAM1 PROX1
5 immune system MP:0005387 9.76 CD34 FLI1 FLT4 KDR MTOR PECAM1
6 liver/biliary system MP:0005370 9.35 FLI1 FLT4 KDR PECAM1 PROX1
7 muscle MP:0005369 9.1 FLI1 FLT4 KDR MTOR PECAM1 PROX1
Sources

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

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Drugs for Kaposiform Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
2
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
3
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
6
Propranolol Approved, Investigational Phase 2 525-66-6 4946
7
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
9
tannic acid Approved Phase 2 1401-55-4
10
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
11
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
12
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
13 Adrenergic beta-Antagonists Phase 2
14 Immunologic Factors Phase 2
15 Peripheral Nervous System Agents Phase 2
16 Hormone Antagonists Phase 2
17 Neuroprotective Agents Phase 2
18 Adrenergic Antagonists Phase 2
19 Anti-Arrhythmia Agents Phase 2
20 Neurotransmitter Agents Phase 2
21 Adrenergic Agents Phase 2
22 Hormones Phase 2
23 Gastrointestinal Agents Phase 2
24 Vasodilator Agents Phase 2
25 Antiemetics Phase 2
26 Antineoplastic Agents, Hormonal Phase 2
27 Methylprednisolone Acetate Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Anti-Infective Agents Phase 2
30 Immunosuppressive Agents Phase 2
31 glucocorticoids Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
33 Anti-Bacterial Agents Phase 2
34 Antihypertensive Agents Phase 2
35 Antifungal Agents Phase 2
36 Autonomic Agents Phase 2
37 Anti-Inflammatory Agents Phase 2
38 Protective Agents Phase 2
39 Prednisolone acetate Phase 2
40 Antimitotic Agents Phase 2
41 Antineoplastic Agents, Phytogenic Phase 2
42 Endothelial Growth Factors
43 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
2 A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors Recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
3 Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2 sirolimus
4 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
5 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

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Genetic Tests for Kaposiform Hemangioendothelioma

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Anatomical Context for Kaposiform Hemangioendothelioma

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MalaCards organs/tissues related to Kaposiform Hemangioendothelioma:

42
Bone, Skin, Spleen, Endothelial, Lung, Tongue, Thymus
Sources

Publications for Kaposiform Hemangioendothelioma

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Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 163)
# Title Authors Year
1
A report on Kaposiform hemangioendothelioma of the cervical spine. ( 30896568 )
2019
2
Pediatric facial kaposiform hemangioendothelioma: a case report and review of the literature. ( 31044058 )
2019
3
Low dose sirolimus treatment for refractory tufted angioma and congenital kaposiform hemangioendothelioma, both with Kasabach-Merritt phenomenon. ( 31087627 )
2019
4
Kaposiform Hemangioendothelioma of the GI Tract: An Exception to Occam's Principle in an Adult with SBO. ( 31093393 )
2019
5
Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin. ( 29240034 )
2018
6
Association between extremity kaposiform hemangioendothelioma and lymphedema. ( 29266383 )
2018
7
Clinical and imaging features of Kaposiform Hemangioendothelioma. ( 29536769 )
2018
8
Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract. ( 29554025 )
2018
9
Vascular Tumors in Infants: Case Report and Review of Clinical, Histopathologic, and Immunohistochemical Characteristics of Infantile Hemangioma, Pyogenic Granuloma, Noninvoluting Congenital Hemangioma, Tufted Angioma, and Kaposiform Hemangioendothelioma. ( 29561329 )
2018
10
Pneumocystis Jirovecii Pneumonia During Sirolimus Therapy for Kaposiform Hemangioendothelioma. ( 29610164 )
2018
11
Atypically presenting kaposiform hemangioendothelioma of the knee: ultrasound findings. ( 29637402 )
2018
12
Impact of sirolimus treatment for refractory kaposiform hemangioendothelioma with exacerbation of the disease 10 years after initial diagnosis. ( 29872523 )
2018
13
Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma. ( 29999213 )
2018
14
Successful Management of Kaposiform Hemangioendothelioma with Long-Term Sirolimus Treatment: a Case Report and Review of the Literature. ( 30002799 )
2018
15
Sirolimus Treatment of an Infant With Intrathoracic Kaposiform Hemangioendothelioma Complicated by Life-threatening Pleural and Pericardial Effusions. ( 30044355 )
2018
16
Kaposiform hemangioendothelioma in children: a benign vascular tumor with multiple treatment options. ( 30054848 )
2018
17
First Intracardiac Kaposiform Hemangioendothelioma in an Infant Resolved With Sirolimus: A Case Report. ( 30067556 )
2018
18
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in an infant: Successful treatment with prednisolone, vincristine, and addition of sirolimus. ( 30070028 )
2018
19
Musculoskeletal complication in kaposiform hemangioendothelioma without Kasabach-Merritt phenomenon: clinical characteristics and management. ( 30233248 )
2018
20
Kaposiform hemangioendothelioma without cutaneous involvement. ( 30293120 )
2018
21
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. ( 30372769 )
2018
22
Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review. ( 30466240 )
2018
23
Long-term outcome for kaposiform hemangioendothelioma: A report of two cases. ( 27701822 )
2017
24
Kaposiform Hemangioendothelioma: Multifocal Involvement, Chylothorax, and Kasabach-Merritt Phenomenon. ( 27820128 )
2017
25
An intermediate vascular tumour between kaposiform hemangioendothelioma and tufted angioma with regression of the skin lesion. ( 27882874 )
2017
26
Multifocal Kaposiform Hemangioendothelioma Causing Massive Fetal Chylous Ascites. ( 27983885 )
2017
27
Imaging findings of Kaposiform Hemangioendothelioma in children. ( 28027747 )
2017
28
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: successful treatment with sirolimus. ( 28220608 )
2017
29
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. ( 28318049 )
2017
30
Identical Presentation of Scapular Osteolysis in Two Patients with Thoracic Kaposiform Hemangioendothelioma. ( 28382716 )
2017
31
Successful Management of Pancreatic Kaposiform Hemangioendothelioma With Sirolimus: Case Report and Literature Review. ( 28426496 )
2017
32
Sirolimus for the treatment of progressive kaposiform hemangioendothelioma: A multicenter retrospective study. ( 28486787 )
2017
33
Pancreatic Kaposiform Hemangioendothelioma Not Responding to Sirolimus. ( 28761800 )
2017
34
Intestinal obstruction due to kaposiform hemangioendothelioma in a 1-month-old infant: A case report. ( 28906349 )
2017
35
Kaposiform hemangioendothelioma in an adult with rheumatoid arthritis. ( 29154372 )
2017
36
Restricted Range of Motion and a Cold Upper Extremity in a Two-Year-Old Boy: Kaposiform Hemangioendothelioma of the Bone and the Brachial Plexus: A Case Report. ( 29286963 )
2017
37
C-Kit, CD34 & α-SMA Immunohistochemical Features in Classic Kaposi Sarcoma and Kaposiform Hemangioendothelioma. ( 30023237 )
2017
38
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
39
Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy. ( 26907642 )
2016
40
Recurrent multifocal cutaneous Kaposiform hemangioendothelioma: A rare vascular tumor of infancy and childhood. ( 27510687 )
2016
41
The clinical spectrum of kaposiform hemangioendothelioma and tufted angioma. ( 27607323 )
2016
42
Response to Paclitaxel in an Adult Patient with Advanced Kaposiform Hemangioendothelioma. ( 27721772 )
2016
43
Interferon-alpha therapy for refractory kaposiform hemangioendothelioma: a single-center experience. ( 27796340 )
2016
44
Adult-onset Kaposiform hemangioendothelioma of the tongue: case report and review of the literature. ( 27803613 )
2016
45
Sirolimus for treatment of kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon. ( 27981218 )
2016
46
Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations. ( 28099595 )
2016
47
Surgical treatment of a huge kaposiform hemangioendothelioma in the chest wall: A case study. ( 28228957 )
2016
48
Refractory Kaposiform Hemangioendothelioma Associated with the Chromosomal Translocation t(13;16)(q14;p13.3). ( 26555222 )
2016
49
Role of Sirolimus in Advanced Kaposiform Hemangioendothelioma. ( 26864138 )
2016
50
Abdominal Kaposiform Hemangioendothelioma Associated With Lymphangiomatosis Involving Mesentery and Ileum: A Case Report of MRI, CT, and 18F-FDG PET/CT Findings. ( 26871848 )
2016
Sources

Variations for Kaposiform Hemangioendothelioma

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ClinVar genetic disease variations for Kaposiform Hemangioendothelioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNA14 NM_004297.3(GNA14): c.614A> T (p.Gln205Leu) single nucleotide variant Likely pathogenic rs1554685903 GRCh37 Chromosome 9, 80043932: 80043932
2 GNA14 NM_004297.3(GNA14): c.614A> T (p.Gln205Leu) single nucleotide variant Likely pathogenic rs1554685903 GRCh38 Chromosome 9, 77429016: 77429016
Sources

Expression for Kaposiform Hemangioendothelioma

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Search GEO for disease gene expression data for Kaposiform Hemangioendothelioma.
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Pathways for Kaposiform Hemangioendothelioma

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Pathways related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 65
Show member pathways
 12.63 FLT4 GNA14 KDR MTOR
2
p70S6K Signaling 65
Show member pathways
 12.59 FLT4 GNA14 KDR MTOR
3
PI3K-Akt signaling pathway 38
Show member pathways
 12.39 FLT4 KDR MTOR VWF
4
NF-kappaB Signaling 4
12.19 CD34 FLI1 PECAM1
5
mTOR signaling pathway (KEGG) 38
Show member pathways
 12.12 FLT4 KDR MTOR
6
Apoptosis Pathway 73
Show member pathways
 11.92 FLT4 KDR MTOR
7
MAPK Signaling: Mitogen Stimulation Pathway 66
Show member pathways
 11.73 FLT4 KDR MTOR
8
AKT Signaling Pathway 68
11.49 FLT4 KDR MTOR
9
ECM-receptor interaction 38
Show member pathways
 11.32 KDR PECAM1 VWF
10
Vemurafenib Pathway, Pharmacodynamics 62
11.09 FLT4 KDR
11
Angiogenesis (CST) 4
10.97 FLT4 KDR PECAM1 PROX1 VWF
Sources

GO Terms for Kaposiform Hemangioendothelioma

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Biological processes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.7 FLT4 KDR PECAM1
2 extracellular matrix organization GO:0030198 9.67 KDR PECAM1 VWF
3 positive regulation of protein phosphorylation GO:0001934 9.65 FLT4 KDR MTOR
4 protein autophosphorylation GO:0046777 9.63 FLT4 KDR MTOR
5 hemostasis GO:0007599 9.54 FLI1 VWF
6 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.51 FLT4 KDR
7 vascular endothelial growth factor signaling pathway GO:0038084 9.43 FLT4 KDR
8 lymph vessel development GO:0001945 9.4 FLT4 PROX1
9 lymphangiogenesis GO:0001946 9.37 FLT4 PROX1
10 positive regulation of endothelial cell migration GO:0010595 9.33 FLT4 KDR PROX1
11 positive regulation of vasculogenesis GO:2001214 9.32 CD34 KDR
12 endothelium development GO:0003158 9.26 CD34 KDR
13 glomerular endothelium development GO:0072011 8.96 CD34 PECAM1
14 positive regulation of endothelial cell proliferation GO:0001938 8.92 FLT4 KDR MTOR PROX1

Molecular functions related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 FLT4 KDR
2 growth factor binding GO:0019838 8.96 FLT4 KDR
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 FLT4 KDR
Sources

Sources for Kaposiform Hemangioendothelioma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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